Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and fragile x syndromes: American Journal on Intellectual and Developmental Disabilities

Research output: Contribution to journalArticlepeer-review

Colleges, School and Institutes


Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M age = 15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population. © EAAIDD.


Original languageEnglish
Pages (from-to)55-73
Number of pages19
JournalAmerican Journal on Intellectual and Developmental Disabilities
Issue number1
Publication statusPublished - Jan 2013


  • Autism spectrum disorder, Behavioral phenotypes, Cornelia de Lange syndrome, Fragile X syndrome, adaptive behavior, adolescent, adult, article, autism, child, classification, comorbidity, de Lange syndrome, disability, female, fragile X syndrome, human, interpersonal communication, male, preschool child, psychological aspect, questionnaire, self care, social adaptation, Adaptation, Psychological, Adolescent, Adult, Child, Child Development Disorders, Pervasive, Child, Preschool, Communication, Comorbidity, De Lange Syndrome, Disability Evaluation, Female, Fragile X Syndrome, Humans, Male, Questionnaires, Self Care, Social Adjustment, Young Adult